List of variants studied for intellectual developmental disorder with autism and macrocephaly by OMIM

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001170629.2(CHD8):c.185C>G (p.Ser62Ter)	rs1331026006
NM_001170629.2(CHD8):c.2065G>T (p.Glu689Ter)	rs1555316331
NM_001170629.2(CHD8):c.2240dup (p.Tyr747Ter)	rs2139484859
NM_001170629.2(CHD8):c.3502T>A (p.Tyr1168Asn)	rs2139469836
NM_001170629.2(CHD8):c.3519-2A>G	rs1594344233
NM_001170629.2(CHD8):c.3562C>T (p.Arg1188Ter)	rs1555314911
NM_001170629.2(CHD8):c.3712C>T (p.Gln1238Ter)	rs397514551
NM_001170629.2(CHD8):c.4009C>T (p.Arg1337Ter)	rs397514552
NM_001170629.2(CHD8):c.4818-1G>A	rs2139460816
NM_001170629.2(CHD8):c.6307_6310del (p.Glu2103fs)	rs1887639311
NM_001170629.2(CHD8):c.6355_6356del (p.Leu2120fs)	rs1887627866
NM_001170629.2(CHD8):c.7112dup (p.Asn2371fs)	rs751094013
NM_001170629.2(CHD8):c.7481ACC[4] (p.His2498del)	rs774490485

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